Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

premature ovarian failure 20 (POF20) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 20

MONDO:0030975

Also known as:POF20

Overview

GeneticsAutosomal recessive · MSH4 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Secondary amenorrhea, Elevated circulating luteinizing hormone level, Female infertility, and Elevated circulating follicle stimulating hormone level.

Organ System	Phenotype Count	Example Features
Hormones	2	Secondary amenorrhea, Female infertility

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MSH4 encodes mutS homolog 4 (936 aa). Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis Highest expression in Testis (6.4 TPM) and Brain Cerebellum (2.5 TPM).

Premature ovarian failure 20 is associated with mutations in the MSH4 gene on chromosome 1.

The MSH4 protein participates in Resolution of meiotic holliday junction, Formation of meiotic holliday junction, and Meiotic recombination pathways.

MSH4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MSH4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for premature ovarian failure 20.

87 publications have been identified in PubMed for premature ovarian failure 20. Research spans Epidemiology / Natural History (40%), Review / Meta-Analysis (32%), and Basic Science / Preclinical (11%).

Research Type	Count	% of Total
Disease patterns and progression	35	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619938

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

premature ovarian failure 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

premature ovarian failure 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications